Canonical Allele Identifier: CA1785187971

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54625613_54625618delinsGGAAGA , CM000670.2:g.54625613_54625618delinsGGAAGA	GRCh38
NC_000008.10:g.55538173_55538178delinsGGAAGA , CM000670.1:g.55538173_55538178delinsGGAAGA	GRCh37
NC_000008.9:g.55700726_55700731delinsGGAAGA	NCBI36
NG_009840.1:g.14547_14552delinsGGAAGA
NG_009840.2:g.14547_14552delinsGGAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.1731_1736delinsGGAAGA MANE Select	ENSP00000220676.1:p.Glu577=
ENST00000636932.1:c.787+3325_787+3330delinsGGAAGA	ENSP00000489857.1:n.787+3325_787+3330delinsGGAAGA
ENST00000637698.1:c.787+3325_787+3330delinsGGAAGA	ENSP00000490104.1:n.787+3325_787+3330delinsGGAAGA
ENST00000220676.1:c.1731_1736delinsGGAAGA	ENSP00000220676.1:p.Glu577=
NM_006269.1:c.1731_1736delinsGGAAGA	NP_006260.1:p.Glu577=
XM_017013721.1:c.1752_1757delinsGGAAGA	XP_016869210.1:p.Glu584=
XM_017013722.1:c.1731_1736delinsGGAAGA	XP_016869211.1:p.Glu577=
NM_001375654.1:c.787+3325_787+3330delinsGGAAGA	NP_001362583.1:n.787+3325_787+3330delinsGGAAGA
NM_006269.2:c.1731_1736delinsGGAAGA MANE Select	NP_006260.1:p.Glu577=